Canonical Allele Identifier: CA308108980

Gene: RYR1

Linked Data

• ClinVar Variation Id: 544526
• ClinVar RCV Id: RCV000655720 ; RCV004004182
• dbSNP Id: rs778680515
• gnomAD v3: 19-38564973-G-A
• gnomAD v4: 19-38564973-G-A
• MyVariant Identifiers: chr19:g.39055613G>A (hg19) ; chr19:g.38564973G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38564973G>A , CM000681.2:g.38564973G>A	GRCh38
NC_000019.9:g.39055613G>A , CM000681.1:g.39055613G>A	GRCh37
NC_000019.8:g.43747453G>A	NCBI36
NG_008866.1:g.136274G>A , LRG_766:g.136274G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1049G>A
ENST00000689936.1:c.1031G>A
ENST00000359596.8:c.12639G>A MANE Select	ENSP00000352608.2:p.Lys4213=
ENST00000355481.8:c.12624G>A	ENSP00000347667.3:p.Lys4208=
ENST00000359596.7:c.12639G>A	ENSP00000352608.2:p.Lys4213=
ENST00000360985.7:c.12621G>A	ENSP00000354254.4:p.Lys4207=
ENST00000594335.5:c.6008G>A
NM_000540.2:c.12639G>A , LRG_766t1:c.12639G>A	NP_000531.2:p.Lys4213=
NM_001042723.1:c.12624G>A	NP_001036188.1:p.Lys4208=
XM_006723317.1:c.12621G>A	XP_006723380.1:p.Lys4207=
XM_006723319.1:c.12606G>A	XP_006723382.1:p.Lys4202=
XM_011527204.1:c.12636G>A	XP_011525506.1:p.Lys4212=
XM_011527205.1:c.12639G>A	XP_011525507.1:p.Lys4213=
XM_006723317.2:c.12621G>A	XP_006723380.1:p.Lys4207=
XM_006723319.2:c.12606G>A	XP_006723382.1:p.Lys4202=
XM_011527205.2:c.12639G>A	XP_011525507.1:p.Lys4213=
NM_000540.3:c.12639G>A MANE Select	NP_000531.2:p.Lys4213=
NM_001042723.2:c.12624G>A	NP_001036188.1:p.Lys4208=